Korean J Med.
2010 Aug;79(2):171-176.
Familial diffuse gastroesophageal leiomyomatosis: A presentation in a mother and her son with Alport syndrome
- Affiliations
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- 1Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea. cywgi@chollian.net
- 2Department of Pathology, Kyung Hee University College of Medicine, Seoul, Korea.
Abstract
- Diffuse gastroesophageal leiomyomatosis is a rare, benign neoplastic condition characterized by thickening of the esophageal wall as a result ofaberrant smooth muscle proliferation. Gastroesophageal leiomyomatosis may occur in isolation or as a familial disorder and has been associated with other conditions, such as Alport syndrome. Alport syndrome is a hereditary disorder of basement membrane type IV collagen, characterized by progressive nephritis, sensorineural deafness and ocular abnormalities. In this article, we present an interesting case of gastroesophageal leiomyomatosis occurring in a single family in whichthe mother and her son had Alport syndrome. This case is the first report in Korea that gastroesophageal leiomyomatosis is associated with two generations of Alport syndrome.
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